HNSHA due to glucose phosphate isomerase deficiency

disorder

SNOMED 52413004CUI C0272064

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased glucose phosphate isomerase activity

Frequent (30-79%)HP:0003568

Enlarged liver

Frequent (30-79%)HP:0002240

Increased lactate dehydrogenase level

Frequent (30-79%)HP:0025435

Nonspherocytic hemolytic anaemia

Frequent (30-79%)HP:0001930

Reticulocytosis

Frequent (30-79%)HP:0001923

Unconjugated hyperbilirubinemia

Frequent (30-79%)HP:0008282

Yellowing of the skin

Frequent (30-79%)HP:0000952

Hydrops fetalis

Occasional (5-29%)HP:0001789

Mental deficiency

Occasional (5-29%)HP:0001249

Poikilocytosis

Occasional (5-29%)HP:0004447

Ataxia

HP:0001251

Gallbladder inflammation

HP:0001082

Gallstones

HP:0001081

Impaired neutrophil bactericidal activity

HP:0011993

Large spleen

HP:0001744

Muscle weakness

HP:0001324

Pigment gallstones

HP:0011981

Sensory ataxia

HP:0010871

Spontaneous hemolytic crises

HP:0005525

Related Conditions

Anemia due to enzyme deficiency(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary nonspherocytic haemolytic anaemia(parent)

Quick Facts

SNOMED CT: 52413004
UMLS CUI: C0272064
Fully Specified Name: Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.